AIMS We aimed to reclassify a population-based cohort of 529 adult glioma patients to evaluate the prognostic impact of the 2016 World Health Organization (WHO) central nervous system tumour classification. Moreover, we evaluated the feasibility of gene panel next generation sequencing (NGS) in daily diagnostics of 225 prospective glioma patients. METHODS The retrospective cohort was reclassified according to WHO 2016 criteria by immunohistochemistry for IDH-R132H, fluorescence in situ hybridization for 1p/19q codeletion and gene panel NGS. All tumours of the prospective cohort were subjected to NGS analysis up-front. RESULTS The entire population-based cohort was successfully reclassified according to WHO 2016 criteria. NGS results were obtained for 98% of the prospective patients. Survival analyses in the population-based cohort confirmed three major prognostic subgroups, i.e. isocitrate dehydrogenase (IDH)-mutant and 1p/19q-codeleted oligodendrogliomas, IDH-mutant astrocytomas and IDH-wildtype glioblastomas. The distinction between WHO grade II and III was prognostic in patients with IDH-mutant astrocytoma. The survival of patients with IDH-wildtype diffuse astrocytomas carrying TERT promoter mutation and/or EGFR amplification overlapped with the poor survival of IDH-wildtype glioblastoma patients. CONCLUSIONS Gene panel NGS proved feasible in daily diagnostics. In addition, our study confirms the prognostic role of glioma classification according to WHO 2016 in a large population-based cohort. Molecular features of glioblastoma in an IDH-wildtype diffuse glioma were linked to poor survival corresponding to IDH-wildtype glioblastoma patients. The distinction between WHO grade II and III retained prognostic significance in patients with IDH-mutant diffuse astrocytic gliomas.

中文翻译：

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用于回顾性预后评估和前期诊断的成人胶质瘤靶向二代测序

目的 我们旨在对 529 名成人神经胶质瘤患者的基于人群的队列进行重新分类，以评估 2016 年世界卫生组织 (WHO) 中枢神经系统肿瘤分类的预后影响。此外，我们评估了基因组下一代测序 (NGS) 在 225 名预期胶质瘤患者的日常诊断中的可行性。方法 根据 WHO 2016 标准，通过 IDH-R132H 的免疫组织化学、1p/19q 编码缺失的荧光原位杂交和基因组 NGS 对回顾性队列进行重新分类。前瞻性队列的所有肿​​瘤都预先进行了 NGS 分析。结果 根据 WHO 2016 标准，整个基于人群的队列成功重新分类。98% 的前瞻性患者获得了 NGS 结果。基于人群的队列中的生存分析证实了三个主要的预后亚组，即异柠檬酸脱氢酶 (IDH) 突变体和 1p/19q 共编码少突胶质细胞瘤、IDH 突变体星形细胞瘤和 IDH 野生型胶质母细胞瘤。WHO II 级和 III 级之间的区别对 IDH 突变型星形细胞瘤患者具有预后意义。携带 TERT 启动子突变和/或 EGFR 扩增的 IDH 野生型弥漫性星形细胞瘤患者的存活率与 IDH 野生型胶质母细胞瘤患者的较差存活率重叠。结论 基因面板 NGS 在日常诊断中被证明是可行的。此外，我们的研究证实了根据 WHO 2016 进行的基于人群的大型队列中神经胶质瘤分类的预后作用。IDH 野生型弥漫性胶质瘤中胶质母细胞瘤的分子特征与对应于 IDH 野生型胶质母细胞瘤患者的不良存活率有关。WHO II 级和 III 级之间的区别在 IDH 突变弥漫性星形胶质细胞瘤患者中保留了预后意义。